Variant report

Variant	rs9981945
Chromosome Location	chr21:45324364-45324365
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45317264..45322147-chr21:45323792..45330212,11	K562	blood:
2	chr21:45322017..45325690-chr21:45333512..45336768,4	MCF-7	breast:
3	chr21:45305766..45308236-chr21:45323857..45326352,2	K562	blood:

Variant related genes	Relation type
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10084560	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10084623	1.00[AMR][1000 genomes]
rs11909584	1.00[AMR][1000 genomes]
rs60998087	1.00[AMR][1000 genomes]
rs9306170	1.00[AMR][1000 genomes]
rs9974773	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9977077	1.00[AMR][1000 genomes]
rs9977718	1.00[AMR][1000 genomes]
rs9981524	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9982231	1.00[AMR][1000 genomes]
rs9983454	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9984820	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
4	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1066284	chr21:45249549-45343314	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45287400-45330200	Weak transcription	Fetal Kidney	kidney
2	chr21:45301000-45328400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr21:45301400-45326000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr21:45305000-45328000	Weak transcription	NHEK	skin
5	chr21:45305000-45332600	Weak transcription	Colon Smooth Muscle	Colon
6	chr21:45305200-45327600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr21:45309800-45330600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:45314000-45330600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr21:45314400-45332000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr21:45314800-45324400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr21:45314800-45329600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr21:45314800-45336000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr21:45316600-45324600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr21:45316600-45336000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr21:45319200-45324600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr21:45319200-45328400	Weak transcription	A549	lung
17	chr21:45319400-45324600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr21:45319400-45328800	Weak transcription	HepG2	liver
19	chr21:45319600-45325600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr21:45319600-45331200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr21:45319800-45324600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr21:45319800-45331000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:45319800-45331800	Weak transcription	Brain Germinal Matrix	brain
24	chr21:45320000-45325600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr21:45320000-45332400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr21:45320800-45325600	Weak transcription	Primary hematopoietic stem cells	blood
27	chr21:45321000-45325200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr21:45321000-45325800	Weak transcription	Primary B cells from cord blood	blood
29	chr21:45321000-45327800	Weak transcription	Brain Anterior Caudate	brain
30	chr21:45321000-45331400	Weak transcription	Brain Substantia Nigra	brain
31	chr21:45321600-45324400	Enhancers	Liver	Liver
32	chr21:45322400-45324400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr21:45322400-45324600	Enhancers	Right Ventricle	heart
34	chr21:45322400-45324800	Enhancers	Right Atrium	heart
35	chr21:45322400-45325000	Enhancers	Pancreas	Pancrea
36	chr21:45322600-45325000	Enhancers	Left Ventricle	heart
37	chr21:45322600-45328000	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr21:45322800-45325400	Weak transcription	K562	blood
39	chr21:45323000-45331800	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr21:45323200-45324400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr21:45323200-45324400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr21:45323200-45324400	Enhancers	Colonic Mucosa	Colon
43	chr21:45323200-45324400	Enhancers	Psoas Muscle	Psoas
44	chr21:45323200-45324400	Genic enhancers	Stomach Smooth Muscle	stomach
45	chr21:45323200-45324600	Enhancers	HSMMtube	muscle
46	chr21:45323200-45326000	Weak transcription	GM12878-XiMat	blood
47	chr21:45323200-45328200	Weak transcription	Brain Angular Gyrus	brain
48	chr21:45323200-45332400	Weak transcription	Hela-S3	cervix
49	chr21:45323400-45324600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr21:45323400-45324600	Genic enhancers	Fetal Muscle Trunk	muscle

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